Variant report

Variant	rs74128119
Chromosome Location	chr10:45463848-45463849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr10:45463491-45463979	HL-60	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
2	RELA	chr10:45463135-45464520	GM18951	blood:	n/a	n/a
3	POLR2A	chr10:45457577-45464667	GM12878	blood:	n/a	n/a
4	REST	chr10:45463166-45464849	HL-60	blood:	n/a	chr10:45463832-45463842
5	CHD2	chr10:45463267-45464549	GM12878	blood:	n/a	n/a
6	RUNX3	chr10:45463390-45463958	GM12878	blood:	n/a	n/a
7	RELA	chr10:45463133-45464058	GM19099	blood:	n/a	n/a
8	SPI1	chr10:45462969-45464111	HL-60	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
9	RELA	chr10:45463068-45464777	GM12891	blood:	n/a	n/a
10	CEBPB	chr10:45463643-45464116	HepG2	liver:	n/a	n/a
11	EP300	chr10:45463353-45464492	GM12878	blood:	n/a	n/a
12	CEBPB	chr10:45463839-45464076	K562	blood:	n/a	n/a
13	SPI1	chr10:45463663-45463853	GM12878	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
14	RELA	chr10:45462947-45463922	GM19193	blood:	n/a	n/a
15	EP300	chr10:45463184-45464675	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:45463111-45464849	NB4	blood:	n/a	n/a
17	IKZF1	chr10:45463265-45463966	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:45462482-45464971	HL-60	blood:	n/a	n/a
19	POLR2A	chr10:45458224-45466240	HepG2	liver:	n/a	n/a
20	CEBPB	chr10:45463674-45464154	IMR90	lung:	n/a	n/a
21	NFATC1	chr10:45463506-45463977	GM12878	blood:	n/a	chr10:45463742-45463755
22	POLR2A	chr10:45462972-45464974	HL-60	blood:	n/a	n/a
23	SPI1	chr10:45463465-45463998	GM12891	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
24	EBF1	chr10:45463552-45463911	GM12878	blood:	n/a	n/a
25	SPI1	chr10:45463219-45464195	GM12878	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
26	EBF1	chr10:45463059-45464044	GM12878	blood:	n/a	chr10:45463239-45463250
27	WRNIP1	chr10:45463310-45464156	GM12878	blood:	n/a	n/a
28	PML	chr10:45463754-45464523	GM12878	blood:	n/a	n/a
29	NFIC	chr10:45463115-45463885	GM12878	blood:	n/a	n/a
30	USF2	chr10:45463820-45464050	GM12878	blood:	n/a	n/a
31	MYC	chr10:45463111-45465015	NB4	blood:	n/a	chr10:45464825-45464832
32	MAX	chr10:45462487-45464904	NB4	blood:	n/a	chr10:45464825-45464832
33	MTA3	chr10:45463297-45463930	GM12878	blood:	n/a	n/a
34	SPI1	chr10:45463521-45463964	GM12891	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719
35	NFATC1	chr10:45463435-45463976	GM12878	blood:	n/a	chr10:45463742-45463755
36	MTA3	chr10:45463420-45464700	GM12878	blood:	n/a	n/a
37	RUNX3	chr10:45463451-45463867	GM12878	blood:	n/a	n/a
38	SPI1	chr10:45463503-45463886	GM12878	blood:	n/a	chr10:45463769-45463778 chr10:45463708-45463717 chr10:45463706-45463719

No.	Distal block	Cell Line	Cell type
1	chr10:45463003..45464731-chr10:45465412..45467075,2	MCF-7	breast:
2	chr10:45462150..45464959-chr10:45472680..45475248,4	MCF-7	breast:
3	chr10:45461482..45464427-chr10:45495628..45497764,2	K562	blood:

Variant related genes	Relation type
RASSF4	TF binding region
ENSG00000165512	Chromatin interaction
ENSG00000165507	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000165511	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12246223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12246550	0.84[AFR][1000 genomes]
rs12258351	1.00[AMR][1000 genomes]
rs12263839	1.00[AMR][1000 genomes]
rs56244069	1.00[AMR][1000 genomes]
rs61203275	1.00[AMR][1000 genomes]
rs74128118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128177	1.00[AMR][1000 genomes]
rs74128187	1.00[AMR][1000 genomes]
rs74128190	1.00[AMR][1000 genomes]
rs74128194	1.00[AMR][1000 genomes]
rs74131510	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45455600-45465200	Enhancers	Fetal Thymus	thymus
2	chr10:45455600-45465200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr10:45455800-45464000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:45455800-45465600	Weak transcription	Ovary	ovary
5	chr10:45456200-45465000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:45456400-45466200	Weak transcription	Aorta	Aorta
7	chr10:45456800-45465200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr10:45456800-45466600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:45458000-45465000	Enhancers	Primary B cells from cord blood	blood
10	chr10:45458200-45465000	Enhancers	Thymus	Thymus
11	chr10:45458400-45464200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr10:45458400-45464400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:45458400-45464800	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:45458400-45465800	Enhancers	Psoas Muscle	Psoas
15	chr10:45458800-45465200	Enhancers	Spleen	Spleen
16	chr10:45459000-45464400	Enhancers	Placenta	Placenta
17	chr10:45459000-45465600	Enhancers	Left Ventricle	heart
18	chr10:45459800-45465200	Enhancers	Right Ventricle	heart
19	chr10:45459800-45465800	Enhancers	Right Atrium	heart
20	chr10:45460000-45464000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:45460000-45464000	Enhancers	Fetal Kidney	kidney
22	chr10:45460000-45470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:45460400-45464000	Enhancers	Fetal Muscle Leg	muscle
24	chr10:45460400-45464400	Weak transcription	Fetal Brain Male	brain
25	chr10:45460400-45464600	Enhancers	Fetal Muscle Trunk	muscle
26	chr10:45460400-45469800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:45460600-45466200	Weak transcription	Fetal Brain Female	brain
28	chr10:45460800-45464200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:45460800-45464800	Enhancers	Fetal Heart	heart
30	chr10:45460800-45465400	Enhancers	Primary hematopoietic stem cells	blood
31	chr10:45461000-45464200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr10:45461200-45464400	Enhancers	HSMM	muscle
33	chr10:45461200-45464600	Enhancers	Colon Smooth Muscle	Colon
34	chr10:45461200-45466000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr10:45461200-45468200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr10:45461400-45464400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:45461400-45464400	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:45461400-45467000	Weak transcription	Brain Germinal Matrix	brain
39	chr10:45461400-45468400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:45461400-45468600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:45461400-45468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:45461600-45464200	Enhancers	Lung	lung
43	chr10:45461600-45468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:45461600-45468600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:45461800-45464200	Enhancers	Stomach Mucosa	stomach
46	chr10:45461800-45466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:45462000-45464400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:45462000-45464400	Enhancers	Stomach Smooth Muscle	stomach
49	chr10:45462000-45464800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:45462000-45465400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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